Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.V88delFs
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G6PC1

NM_000151.4:p.V88delFs

Associated Papers

Clinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.

Xu Y et al.

European Journal of Pediatrics, 2025

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.

Wang A et al.

Bmc Medical Genomics, 2024

A patient with glycogen storage disease type IA combined with hepatic adenoma: A case report.

Yin M et al.

Genes & Diseases, 2023

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Abdul Wahab SA et al.

Genetics Research, 2022

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.

Liang Y et al.

Molecular Genetics & Genomic Medicine, 2020

Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.

Ying S et al.

Frontiers in Pediatrics, 2020

Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

Zheng BX et al.

European Journal of Pediatrics, 2015

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY et al.

Human Mutation, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."